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Journal : Nusantara Medical Science Journal

Surgical Treatment Of Pendred Syndrome With Thyroid Nodule: A Case Report Ferianto, Djonny; Syamsu, Salman Ardi; Sapan, Vannes Caesar Palebangan; Indra; Sampepajung, Elridho; Pieter Jr, John
Nusantara Medical Science Journal Volume 9 Issue 2, July - December 2024
Publisher : Faculty of Medicine, Hasanuddin University.

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.20956/nmsj.vi.42770

Abstract

Introduction and importance: Pendred syndrome (PS) is a genetic disease inherited in an autosomal recessive pattern. In PS patients, the ability of thyroid gland to accumulate iodide in the follicle lumen is disrupted, causing insufficient thyroid hormone synthesis and goiter to occur as compensation. However, this symptom does not often appear, as goiter is only detected in 30–75% of PS patients. Presentation of case: A 33-year-old Buginese man complained of a painless mass in the neck. In the past 3 months, the mass has shown rapid growth, followed by symptoms of agitation, irritability, and hyperhidrosis. The patient was previously diagnosed with nodular goiter and was taking Levothyroxine. Furthermore, there was a history of the same disease in the patient’s grandmother and younger sibling. Physical examination showed grade III goiter (WHO criteria) with hard consistency and no palpable nodules. Laboratory tests showed routine blood tests, kidney and liver function in normal limits, 1.14 ng/dL FT4, free triiodothyronine level of 6.07 pg/dL, and 2,401 mIU/L TSH level. Chest X-ray results showed tracheal narrowing at the level of the superior thoracic aperture. Similarly, thyroid USG showed that the size of the right lobe was enlarged and anechoic. CT (Computerized Tomography) scan of the cervix showed diffuse enlargement in each lobe and the patient was diagnosed with PS. Right isthmolobectomy and thyroid biopsy were carried out and pathological anatomical examination results showed thyroid follicular nodular disease with cystic degeneration. After surgery, thyroxine hormone replacement therapy was continued. Discussion: Surgical intervention strategies may be employed to inhibit the advancement of disease and mitigate thyroid enlargement, consequently decreasing the likelihood of obstruction and malignancy. Conclusions: In cases of PS with large thyroid nodules pressing on the trachea, isthmolobectomy was carried out to obtain good results and no recurrence.
Co-Authors Aam Slamet Rusydiana Abdillah, Farhan Wahyu Achmad Firdaus Adi Dadan Ramdana Adita Dyah Asokawati Agus Umar Hamdani Agussabti Ahmad H. Siregar Alfian Hamsi Alkadri Ameta Primasari Andi Dahrul Andi Mansyur Tanra Andriana, Mohammad Indra Andy Lesmana Andya Safrizal Anggraini*, Leriza Desitama Aniq, Muhammad Farid Antula, Pratiwi Ardiansyah, La Ode Ardiansyah, Noval Bayu Arif Luqman Ibrahim Arif, Mukhrizal Asbath Said Ashsidiqqi, Hasbi Asmawati Astrit Lamadi Athalla, Muhammad Radjab Aulia Rahman Aulia, Novita Azmi, Maulida Bergita Dumar Brayn, Randy Bustami Syam Cici Yusnayanti Darmawan, Rizqi Dedi Ikhwani Dellby, Chintya Dewi Kusuma Wardani Deyidi Mokoginta Dhari, Putri Wulan Dwi Wulandari Ningtias Purnama Dzaironi, Muhammad Ervina Sofyanti Fajri Febrian, Mutiara Adinda Ferianto, Djonny Hadari Haerani, Herty Hairun Nisya A.Mamente Hamrul, Heliawati Harahap, Sayla Ar Rahmah Hafiidzah Harlinawati Hasbi Assiddiq S Hertati , Lesi Hery Widijanto Heryahya, Andang Heryati, Agustina Hiola, Dewi Suryaningsi Holdani Husni Mubarak Ichsanul Khairi Ikhwansyah Isranuri Islamiah Ismail, Mirta Della Iswahyudi, M. Subhan Jeffry Anggara Johan Andriesgo Khairiska Afra Kusmawati, Sri Lazirkha, Diana Putri Lisnawati Lubis, Rusdi Hamka Lutfiah, Anisa M Arif Al Islami M. Sabri M. Sabri Mahadi Mappamiring Maulana Aqsha Maulida , Ika Mauridhy Hery Purnomo Mihrawaty S. Antu Moh. Nisyar Sy. Abd. Azis Monalisa Mubarok, Zam Zam Saepul Muh Rafli Rasyid Muh. Ma'ruf Indris Muh. Satria Pagala Muhamad Arul Rizky Muhammad Dini Adita Muhammad Faisal Muhammad Iqbal Muhammad, Hafiz Akbar Mustakim Musyrifah Narmada , Ida Bagus Nashir, Fathin Kemala Nasrun Pakaya Nawangsari, Sefti Afi nawawi Nazaruddin Nirwanto K. Rahim Novianti, Asri Dwi Noviati Novita Sari Novy Ramadhina Nur Azizah Pulungan Nur, Ismet Nur, Nahya Nurbaeti, Fitri Nurdiana Djamaluddin Nurrohman, Muhammad Nurul Huda Nurul Izzati Oman Sukmana Padila Nurhikmah Palahudin Permasari Sabaniah Pieter Jr, John Puteri, Adinda Mutiara Putri, Septia Amelia Rendi K. Gurusinga Riani, Ririn Rina Rizka Fitri Rustiana, Deden S. Shihab, Muchsin Saepul Anwar Salbiah, Rahma Siti Sampepajung, Elridho Sapan, Vannes Caesar Palebangan Sardi Anto Sariah Sartika Sherlina, Ananda Putri Sinaga, Sopian Sipahutar, Abdul R. Siti Bahirrah Sokhiful Jannah, Siti SRI RAHAYU Suci Nur Utami Suci Setiawati Suparman, Ade Surahmat, Asep Syafari Suryo Pranoto Syafruddin Ilyas Syahrul Abda Syamsu, Salman Ardi Tamia, Fera Taswin Terttiaavini Titiek Tjahja Andari Toding, Rensi Tugiman Veza, Okta Vivi Nila Sari Wa Ode Rahmadania Wahyu Pratama Wahyumi Ekawanti WAHYUNI Wisnu Khawirian Wowiling, Steiva Amerlien Sandra Yusnayanti, Cici Zahalim Zahalim Zahalim Zannah Zaqi Kurniawan Zena Dwi Mentari Zulkifli B. Pomalango